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722377004: Paraganglioma and gastric stromal sarcoma syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3331745011 Paraganglioma and gastric stromal sarcoma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331746012 Carney Stratakis syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331747015 Paraganglioma and gastric stromal sarcoma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331748013 Carney Stratakis dyad en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402894019 Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402895018 Carney-Stratakis syndrome is a recently described familial syndrome characterised by gastrointestinal stromal tumours (GIST) and paragangliomas, often at multiple sites. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331745011 Paraganglioma and gastric stromal sarcoma syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3331745011 Paraganglioma and gastric stromal sarcoma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331746012 Carney Stratakis syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331747015 Paraganglioma and gastric stromal sarcoma syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3331747015 Paraganglioma and gastric stromal sarcoma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331748013 Carney Stratakis dyad en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331749017 A familial syndrome characterized by gastrointestinal stromal tumors and paragangliomas, often at multiple sites. It is a very rare syndrome presenting at a young age. The gastric stromal sarcomas are multifocal and the paragangliomas are multicentric. The clinical spectrum of this syndrome varies widely, depending on the localization and the size of the tumors. The vast majority of cases are due to germline mutations of the succinate dehydrogenase (SDH) subunit genes SDHB, SDHC and SDHD. Predisposition to developing these tumors is inherited in an autosomal dominant manner with incomplete penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331750017 A familial syndrome characterised by gastrointestinal stromal tumours and paragangliomas, often at multiple sites. It is a very rare syndrome presenting at a young age. The gastric stromal sarcomas are multifocal and the paragangliomas are multicentric. The clinical spectrum of this syndrome varies widely, depending on the localisation and the size of the tumours. The vast majority of cases are due to germline mutations of the succinate dehydrogenase (SDH) subunit genes SDHB, SDHC and SDHD. Predisposition to developing these tumours is inherited in an autosomal dominant manner with incomplete penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402894019 Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402895018 Carney-Stratakis syndrome is a recently described familial syndrome characterised by gastrointestinal stromal tumours (GIST) and paragangliomas, often at multiple sites. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3395731001000119 Carney-Stratakis-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6445641000241118 syndrome de paragangliome et sarcome stromal gastrique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6445651000241115 syndrome de Carney-Stratakis fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6445661000241117 dyade de Carney-Stratakis fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6445641000241118 syndrome de paragangliome et sarcome stromal gastrique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6445651000241115 syndrome de Carney-Stratakis fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6445661000241117 dyade de Carney-Stratakis fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3395731001000119 Carney-Stratakis-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Carney Stratakis syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Carney Stratakis syndrome Is a Disorder of sympathetic nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Carney Stratakis syndrome Is a Neoplasm of uncertain behaviour of nervous system false Inferred relationship Existential restriction modifier (core metadata concept)
Carney Stratakis syndrome Is a Polyglandular dysfunction true Inferred relationship Existential restriction modifier (core metadata concept)
Carney Stratakis syndrome Is a Paraganglioma (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Carney Stratakis syndrome Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Carney Stratakis syndrome Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Carney Stratakis syndrome Is a Gastrointestinal stromal tumor (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Carney Stratakis syndrome Is a Hereditary cancer-predisposing syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Carney Stratakis syndrome Is a Inherited autonomic nervous system disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Carney Stratakis syndrome Finding site Structure of multiple endocrine glands (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Carney Stratakis syndrome Associated morphology Gastrointestinal stromal tumor - category false Inferred relationship Existential restriction modifier (core metadata concept) 3
Carney Stratakis syndrome Finding site Gastrointestinal tract structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Carney Stratakis syndrome Associated morphology Paraganglioma false Inferred relationship Existential restriction modifier (core metadata concept) 4
Carney Stratakis syndrome Finding site Sympathetic nervous system structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Carney Stratakis syndrome Is a Congenital disease true Inferred relationship Existential restriction modifier (core metadata concept)
Carney Stratakis syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Carney Stratakis syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Carney Stratakis syndrome Associated morphology Gastrointestinal stromal tumor - category false Inferred relationship Existential restriction modifier (core metadata concept) 1
Carney Stratakis syndrome Finding site Gastrointestinal tract structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Carney Stratakis syndrome Associated morphology Paraganglioma true Inferred relationship Existential restriction modifier (core metadata concept) 2
Carney Stratakis syndrome Finding site Sympathetic nervous system structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Carney Stratakis syndrome Is a Neoplasm of gastrointestinal tract false Inferred relationship Existential restriction modifier (core metadata concept)
Carney Stratakis syndrome Associated morphology Gastrointestinal stromal sarcoma true Inferred relationship Existential restriction modifier (core metadata concept) 1
Carney Stratakis syndrome Is a Primary malignant neoplasm of gastrointestinal tract false Inferred relationship Existential restriction modifier (core metadata concept)
Carney Stratakis syndrome Is a Sarcoma true Inferred relationship Existential restriction modifier (core metadata concept)
Carney Stratakis syndrome Is a Malignant neoplasm of gastrointestinal tract (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Carney Stratakis syndrome Is a Disorder of digestive system specific to fetus OR newborn true Inferred relationship Existential restriction modifier (core metadata concept)
Carney Stratakis syndrome Is a Neoplasm of uncertain behavior of autonomic nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Carney Stratakis syndrome Is a Subepithelial lesion of gastrointestinal tract true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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